rs1686312

Homo sapiens
G>A / G>T
LOC105370478 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0359 (10740/29866,GnomAD)
T=0328 (9566/29118,TOPMED)
T=0301 (1505/5008,1000G)
T=0409 (1576/3854,ALSPAC)
T=0399 (1479/3708,TWINSUK)
chr14:45772294 (GRCh38.p7) (14q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.45772294G>A
GRCh38.p7 chr 14NC_000014.9:g.45772294G>T
GRCh37.p13 chr 14NC_000014.8:g.46241497G>A
GRCh37.p13 chr 14NC_000014.8:g.46241497G>T

Gene: LOC105370478, uncharacterized LOC105370478(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370478 transcriptXR_001750751.1:n.N/AIntron Variant
LOC105370478 transcript variant X2XR_001750752.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.773T=0.227
1000GenomesAmericanSub694G=0.730T=0.270
1000GenomesEast AsianSub1008G=0.679T=0.321
1000GenomesEuropeSub1006G=0.595T=0.405
1000GenomesGlobalStudy-wide5008G=0.699T=0.301
1000GenomesSouth AsianSub978G=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.591T=0.409
The Genome Aggregation DatabaseAfricanSub8700G=0.741T=0.259
The Genome Aggregation DatabaseAmericanSub834G=0.770T=0.23,
The Genome Aggregation DatabaseEast AsianSub1612G=0.667T=0.333
The Genome Aggregation DatabaseEuropeSub18420G=0.584T=0.415
The Genome Aggregation DatabaseGlobalStudy-wide29866G=0.640T=0.359
The Genome Aggregation DatabaseOtherSub300G=0.630T=0.37,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.671T=0.328
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.601T=0.399
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs16863129.5E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1686312 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1686312 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.